Clinical Spectrum of Succinic Semialdehyde Dehydrogenase Deficiency
Neurol 60:1413-1417, Pearl,P.L.,et al, 2003
Bilirubin Metabolism and Kernicterus
Adv Pediatr 44:173-229, Gourley,G.R., 1997
Magnetic Resonance Imaging of Brain and the Neuromotor Disorder in Endemic Cretinism
Ann Neurol 34:91-94, Ma,T.,et al, 1993
Familial Chorea & Myoclonus Epilepsy
Neurol 28:913-919, Takahata,N.,et al, 1978
An 11-year-old Boy with Language Disorder and Epilepsy
Neurol 86:e48-e53, Dong, L. & Zhou, X., 2016
Epilepsy in Children with Infantile Thiamine Deficiency
Neurol 73:828-833, Fattal-Valevski,A.,et al, 2009
A Practical Approach to the Diagnosis and Management of MELAS: Case Report and Review
The Neurologist 8:302-312, Thambisetty,M.,et al, 2002
Mucolipidosis Type IV; Characteristic MRI Findings
Neurol 51:565-569, Frei,K.P.,et al, 1998
Neuroimaging Findings in Late Infantile GM1 Gangliosidosis
AJNR 19:1628-1630, Chen,C-Y.,et al, 1998
X-Linked Malformation of Neuronal Migration
Neurol 47:331-339, Dobyns,W.B.,et al, 1996
Methylmercury Poisoning:Long-Term Clinical, Radiological, Toxicological, and Pathological Studies of an Affected Family
Ann Neurol 35:680-688, Davis,L.E.,et al, 1994
Congenital Bilateral Perisylvian Syndrome:Study of 31 Patients
Lancet 341:608-612, Kuzniecky,R.,et al, 1993
Wolfram Syndrome:Evidence of a Diffuse Neurodegenerative Disease by Magnetic Resonance Imaging
Neurol 42:1220-1224, 1992,, Rando,T.A.,et al, 1992
Twinning and Neurologic Morbisity
Am J Dis Child 146:1110-1113, Scheller,J.M.&Nelson,K.B., 1992
A Clinical Study of Noonan Syndrome
Arch Dis Child 67:178-183, Sharland, M.,et al, 1992
Fucosidosis Revisited:A Review of 77 Patients
Am J Med Genet 38:111-131, Willems,P.J.,et al, 1991
Sulfite Oxidase Deficiency:Clinical, Neuroradiologic, and Biochemical Features in Two New Patients
Neurol 39:252-257, Brown,G.K.,et al, 1989
Bilateral Central Macrogyria:Epilepsy, Pseudobulbar Palsy, and Mental Retardation-A Migration Disorder
Ann Neurol 25:547-554, Kuzniecky,R.,et al, 1989
Retinitis Pigmentosa
Surv Ophthalmol 33:137-177, Pagon,R.A., 1988
Infantile Bilateral Striatal Necrosis, Clinicopathological Classification
Arch Neurol 43:677-680, Mito,T.,et al, 1986
Leigh's Disease in an Adult with Evidence of"Inhibitor Factor"in Family Members
Ann Neurol 3:519, Whetsell,W.O.,et al, 1978
Kearns-Sayre Syndrome & Hypoparathyroidism
Ann Neurol 3:455, Pellock,J.M.,et al, 1978
Neurological Complications of Infantile Osteopetrosis
Ann Neurol 2:378, Lehman,R.A.W.,et al, 1977
Genetic Counseling in Retinitis Pigmentosa
MCV Quart 8:283, Noah,V., 1972
Neurocutaneous Disease
in Dermatology in General Medicine, Fitzpatrick, et al, eds, McGraw Hill, 1971, pp. 1379-1434., Adams,R., 1971
Sturge-Weber Syndrome
UptoDate , Nov, Bodensteiner, J.B., 2014
The Acquired Metabolic Disorders of the Nervous System, Cretinism and Neonatal Myxedema
Adams & Victors Principles of Neurology Chp 40, pg 1156, Ropper, A.H.,et al, 2014
Febrile Infection-Related Epilepsy Syndrome: A Study of 12 Patients
Seizure 22:553-559, Caraballo, R.H.,et al, 2013
The Ever-Expanding Spectrum of Congenital Muscular Dystrophies
Ann Neurol 72:9-17, Mercuri, E. & Muntoni, F., 2012
Practice Parameter: Evaluation of the Child with Microcephaly (An Evidence-Based Review): Report of the Quality Standards Subcommittee of the American Academy of Neurology and the Practice Committee of the Child Neurology Society
Neurol 73:887-897, Ashwal,S.,et al, 2009
Overview of Phenylketonuria
UptoDate (May), Bodamer,O.A., 2008
Congenital Lymphocytic Choriomeningitis Virus Infection: Spectrum of Disease
Ann Neurol 62:347-355, Bonthius,D.J.,et al, 2007
Phenylketonuria
eMedicine (December), Arnold,G.L., 2007
The Tuberous Sclerosis Complex
NEJM 355:1345-1356, Crino,P.B.,et al, 2006
Oligophrenin 1 Mutations Frequently Cause X-Linked Mental Retardation with Cerebellar Hypoplasia
Neurol 65:1364-1369,1346, Zanni,G.,et al, 2005
Diffusion-Weighted Imaging and Proton MR Spectroscopy of White Matter Abnormalities in a Case of Phenylketonuria
Eur J Radiol Extra 54: 5-9, Teksam,M.,et al., 2005
Diffusion-Weighted Imaging of White Matter Abnormalities in Patients with Phenylketonuria
AJNR 22:1583-1586, Phillips,M.D.,et al, 2001
Sjogren-Larsson Syndrome, Clinical and MRI/MRS Findings in FALDH-Deficient Patients
Neurol 52:1345-1352,1307, Van Domburg,P.H.M.F.,et al, 1999
New Developments in the Neurobiology of the Tuberous Sclerosis Complex
Neurol 53:1384-1390, Crino,P.B.&Henske,E.P., 1999
Ash-Leaf Spots in Tuberous Sclerosis
NEJM 338:1887, Kurlemann,G.&Schuierer,G., 1998
Fluid Attenuation Inversion Recovery (FLAIR) Images of Dentatorubropalliodoluysian Atrophy:Case Report
JNNP 65:396-399, Yoshii,F.,et al, 1998
Prader-Willi and Angelman Syndromes
Medicine 77:140-151, Cassidy,S.B.&Schwartz,S., 1998
Association of Tuberous Sclerosis of Temporal Lobes with Autism and Atypical Autism
Lancet 349:392-395, Bolton,P.F.&Griffiths,P.D., 1997
Cognitive Function and Academic Performance in Neurofibromatosis 1:North
K. N. , et al, Neurol 48:1121-11277., , 1997
Bilat Periventricular Nodular Heterotopia with Mental Retard & Syndactyly in Boys:New X-Linked MR Synd
Neurol 49:1042-1047, Dobyns,W.B.,et al, 1997
MRI of White Matter Changes in the Sjogren-Larsson Syndrome
Neuroradiology 37:576-577, Hussain,M.Z.&Aihara,M., 1996
Congenital Muscular Dystrophy:Clinical & Pathologic Study of 50 Pts with Classical (Occidental) Merosin-Positive Form
Neurol 46:815-818, Kobayashi,O.,et al, 1996
Congenital Muscular Dystrophy Syndromes Distinguished by Alkaline and Acid Phosphatase, Merosin, & Dystrophin Staining
Neurol 46:810-814, Connolly,A.M.,et al, 1996
Maternal Phenylketonuria:Magnetic Resonance Imaging of the Brain in Offspring
J Pediatr 128:770-775, Levy,H.L.,et al, 1996